"Genome-Nilou Lab"[submitter] AND "ABCB4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256164	NM_000443.4(ABCB4):c.3487-16T>C	ABCB4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188876	NM_000443.4(ABCB4):c.2211+72T>C	ABCB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 256161	NM_000443.4(ABCB4):c.2211+16C>T	ABCB4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1188877	NM_000443.4(ABCB4):c.1357-40A>G	ABCB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 13691	NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)	ABCB4 (T175A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 198082	NM_000443.4(ABCB4):c.504C>T (p.Asn168=)	ABCB4	Single nucleotide variant (synonymous variant)	Cholestasis, intrahepatic, of pregnancy, 3 +3 more	GBenign

ClinVar